Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

Objective: The natural history of succinic semialdehyde dehydrogenase (SSADH) deficiency in adulthood is unknown; we elucidate the clinical manifestations of the disease later in life.

Methods: A 63-year-old man with long-standing intellectual disability was diagnosed with SSADH deficiency following hospitalization for progressive decline, escalating seizures, and prolonged periods of altered consciousness. We present a detailed review of his clinical course and reviewed our SSADH deficiency database adult cohort to derive natural history information.

Epileptogenesis due to peripheral injury as a cause of focal epilepsy.

Purpose: To report three patients in whom focal epilepsy developed shortly after painful soft tissue injuries to their hands.

Methods: Case reports.

Results: The attacks started in the injured hand.

Acute bilateral opercular strokes causing loss of emotional facial movements.

Unlabelled: The classic anterior opercular syndrome of Foix-Chavany-Marie presents with loss of voluntary facial, pharyngeal, lingual, and mastication movements, with preservation of emotional and automatic movements. Most commonly, sequential strokes affecting bilateral opercula cause this syndrome. The inverse clinical presentation, with selective loss of emotional facial movements, has only rarely been reported, and is less well-localized.

Quality of life after vagus nerve stimulation for intractable epilepsy: is seizure control the only contributing factor?

We assessed the impact of vagus nerve stimulation on a cohort of patients with intractable epilepsy. A 1-year prospective trial of vagus nerve stimulation for intractable epilepsy was done in 26 patients. Seizure frequency, anti-epileptic drugs, and quality of life were assessed using QOLIE-89, ELDQOL, and a Likert scale of impact of treatment.

Carbamazepine- induced hypertension.

A 33-year-old man with complex partial seizures developed de novo hypertension after the initiation of carbamazepine, which resolved on discontinuation. Although rare, a variety of cardiovascular effects including hypertension have been reported with carbamazepine. Numerous mechanisms may be responsible; however, shared pharmacologic properties with the tricyclic antidepressants are suspect.